DNMT1

DNA methyltransferase 1
OMIM: 126375, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red DNMT1 in Genomic imprinting Version 0.138	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature
Green DNMT1 in ClinGen Gene Validity Curations Version 0.64	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Other Phenotypes DNMT1 Methylopathy ORPHA314404 OMIM 604121 autosomal dominant cerebellar ataxia, deafness and narcolepsy
Green DNMT1 in Kleine-Levin syndrome Level 3: Sleep disorders Level 2: Neurology and neurodevelopmental disorders Version 1.7	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary sensory, type IE, 614116 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT ADCADN
Red DNMT1 in Familial dysautonomia Version 1.17	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Neuropathy, hereditary sensory, type IE 614116
Green DNMT1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.79	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Dementia, Deafness, and Sensory Neuropathy
Green DNMT1 in Ataxia and cerebellar anomalies - narrow panel Version 2.300 Latest signed off version: v2.23 (8 Oct 2020) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Green DNMT1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.303	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Green DNMT1 in Paroxysmal central nervous system disorders Version 1.44 Latest signed off version: v1.2 (27 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 Neuropathy, hereditary sensory, type IE, 614116 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT ADCADN
Green DNMT1 in Neurodegenerative disorders - adult onset Version 2.275 Latest signed off version: v2.178 (5 Aug 2021)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM:604121
Green DNMT1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.454	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Neuropathy, hereditary sensory, type IE, 614116 Neuropathy, hereditary sensory, type IE, 614116 Dementia, Deafness, and Sensory Neuropathy
Green DNMT1 in Hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 2.247 Latest signed off version: v2.5 (13 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes hearing loss Dementia, Deafness, and Sensory Neuropathy Neuropathy, hereditary sensory, type IE, 614116 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
Red DNMT1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1677 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant Neuropathy, hereditary sensory, type IE
Green DNMT1 in Hereditary ataxia - adult onset Version 2.158 Latest signed off version: v2.13 (6 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Cerebellar ataxia, deafness and narcolepsy, 604121 Hereditary sensory neuropathy type IE, 614116
Green DNMT1 in Hereditary neuropathy NOT PMP22 copy number Version 1.103 Latest signed off version: v1.36 (5 Aug 2021)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Dementia, Deafness, and Sensory Neuropathy Neuropathy, hereditary sensory, type IE, 614116
Red DNMT1 in Childhood onset dystonia or chorea or related movement disorder Version 1.246 Latest signed off version: v1.137 (5 Aug 2021)	review	Not set	Sources Expert Review Red London North GLH
Green DNMT1 in Severe Paediatric Disorders Version 1.127	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 Neuropathy, hereditary sensory, type IE, 614116